Varaico: Literature-Extracted Genetic Variants

KCNQ1

2,217 papers

RefSeq Summary

This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, ...

Pfam Domains

Ion_transaa 122–359UCSCIon transport protein

KCNQ_channelaa 483–620UCSCKCNQ voltage-gated potassium channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily Q member 1

HGNC Previous Symbols

LQT; KCNA9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000218.3

p.N429D

c.1285A>G

Surrounding Variants

1 paper

NM_000218.3

p.N429S

c.1286A>G

1 paper

NM_000218.3

p.G430_G434del0

c.1290_1301del12

1 paper

NM_000218.3

p.V431insFs

c.1291dupG

1 paper

NM_000218.3

p.D428N

c.1282G>A

2 papers

NM_000218.3

p.G430fs

c.1288_1289fs

1 paper

NM_000218.3

p.D428Y

c.1282G>T

1 paper

NM_000218.3

p.K427R

c.1280A>G

1 paper

NM_000218.3

p.V431_E435del0

c.1292_1303del12

1 paper

NM_000218.3

p.V431insFs

c.1292_1293insG

1 paper

NM_000218.3

p.T432S

c.1294A>T

1 paper

NM_000218.3

p.D426H

c.1276G>C

1 paper

NM_000218.3

p.T432S

c.1295C>G